Bone Abstracts

Objectives: The aim of this study was to determine the relationship between 25-hydroxyvitamin D (25(OH) D) level and blood pressure (BP) in Saudi women and to assess the effect of BMI, as a measure of adiposity, on this relationship.Methods: Three-hundred and three apparently healthy Saudi women (20–40 years old) were randomly selected for this cross-sectional study. All women signed an informed consent and the study was approved by the Ethical Comm...

Objectives: Progressive heterotopic ossification in fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Baseline data from an on-going, global, 3-year, natural history study (NHS) describe FOP disease characteristics, and retrospective flare-up history, causes/symptoms, and outcomes.Methods: Data from 101 subjects (recruited from 2...

Objectives: To describe the clinical, laboratory, radiological and genetic findings of camptodactyly-arthropathycoxa vara-pericarditis (CACP) syndrome in Saudi children.Methods: Medical records of all children with CACP syndrome seen between June 1990 and June 2012 at KFSHRC-Riyadh were reviewed. The data included: gender, age at disease onset, referral diagnosis, clinical and radiological features and molecular genetic studies as well as functional stat...

Introduction: Osteoporosis is a progressive bone disease characterized by low bone mineral density (BMD), decreased bone strength and increased incidence of fragility fractures. It is one of the major public health conditions, affecting millions of people worldwide. Osteopenia is a potential precursor of osteoporosis and identifying this condition is a pivotal step to institute preventive strategies at younger age, leading to delay in onset or prevention of the disease, thus r...

Post-translational modifications of histone N-terminal tail domains affect the local chromatin conformation and serve as a dynamic regulatory layer for controlling gene transcription during cell differentiation. However, the role of epigenetic modifications in the regulation of osteoblast differentiation is still not fully understood. Recently, we identified RCOR2 as a novel regulator of osteoblast differentiation in a genome-wide transcription profiling of mouse MC3T3-E1 cell...

Objectives: Research studies confirm that children with osteogenesis imperfecta (OI) benefit from co-ordinated multidisciplinary services to optimise outcomes and reduce morbidity and mortality. Implementation of a tertiary paediatric centre of excellence within the Republic of Ireland is contentious due to the absence of data on the prevalence, service needs and medical requirements of these patients.Methods: A retrospective chart review of all patients...

Background: Osteogenesis imperfecta [OI] is a disorder of bone fragility with a variable spectrum of severity and poor correlation of antenatal findings with postnatal outcome. We present two antenatal diagnosed cases with a mild postnatal course significant for the absence of fractures and progressive remodelling of the long bones. A novel heterozygous pathogenic mutation predicted to replace glycine with aspartic acid at position 913 in exon 42 of the COL1A2 gene has been id...

OPTN seems to have an important role in bone metabolism by being part of NfkB pathway. CCDC3 is highly expressed in adipocytes and it seems to be negatively regulated by TNFa, however the mechanisms are not very clear. These genes have a ‘head-to-head’ orientation in the genome, which suggests that they might be regulated by a bidirectional promoter that coordinates the expression of both genes in different tissues. Using bioinformatic tools we analyzed the shared re...

Optineurin (OPTN) is a protein encoded by the OPTN gene. This protein is involved in several cellular mechanisms such as autophagy, NF-κB signaling, cellular morphogenesis, membrane and vesicle trafficking, and transcription activation. Mutations in OPTN have been described in glaucoma, amyotrophic lateral sclerosis and other neurological diseases. More recently, a polymorphism in this gene was also identified by a genome wide association study to be ass...

Background: Pycnodysostosis (PDO) is a rare autosomal recessive high bone mass disorder caused by absence of active cathepsin K, which is a lysosomal cysteine protease that plays an important role in degrading the organic matrix of bones. In spite of open fontanelles, raised intracranial pressure has been reported in children with PDO.Presenting problem: We describe a 13-year-old boy with PDO who developed raised intracranial pressure (ICP) which led to ...